Diagnosis of a Centronuclear Myopathy Case in Appalachia 20 Years from Symptom Onset

Abstract

Dynamin 2 (DMN2) mutations cause centronuclear myopathy (CNM) and Charcot Marie Tooth (CMT). Herein we discuss the details of a patient's case of adult onset CNM. We also highlight the unique features of this case with regards to the importance of electromyography (EMG), muscle biopsy and genetic testing in identifying CNM, as well as potential for improving outcomes by having a high index or suspicion and emphasizing better access to healthcare in underserved areas.

Keywords

• Centronuclear myopathy
• dynamin 2
• DNM2
• muscular dystrophy
• weakness